ArticleMedicine2018
A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.
Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- The Impact of Genetic Factors in Ménière's Disease.International journal of molecular sciences · 2026Review
- Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.Frontiers in neurology · 2023Article
- MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac.Journal of otology · 2022Article
- Adult-onset Still's disease: A disease at the crossroad of innate immunity and autoimmunity.Frontiers in medicine · 2022Review
- A case of adult-onset Still's disease accompanied with pulmonary tuberculosis successfully treated with colchicine.Postepy dermatologii i alergologii · 2021Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleFamilial Mediterranean fever (FMF) and adult onset Still's disease (AOSD) have overlapping features, and are categorized as being on the spectrum of autoinflammatory diseases (AIDs). FMF is more prevalent in the Mediterranean region but rarely, described in the Chinese population. PATIENT CONCERNS: We present an interesting case of a Han Chinese AOSD patient with episodic fever, wheals, and polyarthritis for 2 years. DIAGNOSIS: Sequencing analysis found exon 2 mutations of the MEFV gene (c.329T>C [L110P], and c.442G>C [E148Q]).
interventionHer arthritis was well-controlled with colchicine treatment, but fever, and rashes were not. OUTCOMES: She eventually received tocilizumab, in addition to colchicine, and her symptoms completely disappeared. LESSONS: MEFV mutations may exist in AOSD patients, and treatment with colchicine might be helpful in such patients.
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